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          "Ensembl": {
            "hgvs": "ENST00000373344.11:c.7141G>T"
          },
          "RefSeq": {
            "hgvs": "NM_000489.6:c.7141G>T"
          }
        },
        "protein": {
          "Ensembl": {
            "hgvs": "ENSP00000362441.4:p.Glu2381Ter"
          },
          "RefSeq": {
            "hgvs": "NP_000480.3:p.Glu2381Ter"
          }
        }
      }
    },
    {
      "@id": "http://reg.genome.network/allele/PA2830250272",
      "coordinates": [
        {
          "allele": "T",
          "end": 7242,
          "referenceAllele": "G",
          "start": 7241
        }
      ],
      "gene": "http://reg.genome.network/gene/GN000886",
      "geneNCBI_id": 546,
      "geneSymbol": "ATRX",
      "hgvs": [
        "NM_138270.5:c.7027G>T"
      ],
      "proteinEffect": {
        "hgvs": "NP_612114.2:p.Glu2343Ter",
        "hgvsWellDefined": "NP_612114.2:p.Glu2343_Met2454delinsLeuAspValLysArgArgGluAlaIleTyrAsnAspValLeuThrLysGlnGlnMetLeuIleSerCysValGlnArgIleLeuMetAsnArgArgLeuGlnGlnGlnTyrAsnGlnGlnGlnGlnGlnGlnMetThrTyrGlnGlnAlaThrLeuGlyHisLeuMetMetProLysProProAsnLeuIleMetAsnProSerAsnTyrGlnGlnIleAspMetArgGlyMetTyrGlnProValAlaGlyGlyMetGlnProProProLeuGlnArgAlaProProProMetArgSerLysAsnProGlyProSerGlnGlyLysSerMetTer"
      },
      "referenceSequence": "http://reg.genome.network/refseq/RS729130"
    }
  ],
  "type": "nucleotide"
}